Universität zu Köln

Salles, Philippe A., Mata, Ignacio F., Bruenger, Tobias, Lal, Dennis and Fernandez, Hubert H. (2021). ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum. Front. Neurol., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-2295

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Abstract

The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric alpha-beta-gamma protein complex. The alpha 3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system. This isoform is encoded by the ATP1A3 gene. Pathogenic variants in this gene have been implicated in several phenotypes in the last decades. Carriers of pathogenic variants in this gene manifest neurological and non-neurological features in many combinations, usually with an acute onset and paroxysmal episodes triggered by fever or other factors. The first three syndromes described were: (1) rapid-onset dystonia parkinsonism; (2) alternating hemiplegia of childhood; and, (3) cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). Since their original description, an expanding number of cases presenting with atypical and overlapping features have been reported. Because of this, ATP1A3-disorders are now beginning to be viewed as a phenotypic continuum representing discrete expressions along a broadly heterogeneous clinical spectrum.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Salles, Philippe A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mata, Ignacio F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bruenger, Tobias UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Fernandez, Hubert H. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-580220
DOI:	10.3389/fneur.2021.637890
Journal or Publication Title:	Front. Neurol.
Volume:	12
Date:	2021
Publisher:	FRONTIERS MEDIA SA
Place of Publication:	LAUSANNE
ISSN:	1664-2295
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ONSET DYSTONIA-PARKINSONISM; SENSORINEURAL HEARING-LOSS; DE-NOVO MUTATIONS; RAPID-ONSET; ALTERNATING HEMIPLEGIA; CEREBELLAR-ATAXIA; CAPOS SYNDROME; PHENOTYPIC SPECTRUM; ATP1A3 MUTATIONS; OPTIC ATROPHY Multiple languages Clinical Neurology; Neurosciences Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/58022